Canonical Allele Identifier: CA8271054

Gene: PRPF8

Linked Data

• ClinVar Variation Id: 1009077
• ClinVar RCV Id: RCV001306517 ; RCV003888007 ; RCV004034100
• dbSNP Id: rs747942696
• ExAC: 17:1554208 G / A
• gnomAD v2: 17-1554208-G-A
• gnomAD v3: 17-1650914-G-A
• gnomAD v4: 17-1650914-G-A
• MyVariant Identifiers: chr17:g.1554208G>A (hg19) ; chr17:g.1650914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.1650914G>A , CM000679.2:g.1650914G>A	GRCh38
NC_000017.10:g.1554208G>A , CM000679.1:g.1554208G>A	GRCh37
NC_000017.9:g.1500958G>A	NCBI36
NG_009118.1:g.38969C>T
NG_033061.1:g.4185C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000573725.2:c.6716C>T	ENSP00000460849.2:p.Ala2239Val
ENST00000703537.1:c.2644C>T
ENST00000703538.1:c.*6619C>T	ENSP00000515361.1:n.*6619C>T
ENST00000703539.1:n.3210C>T
ENST00000703540.1:c.6749C>T	ENSP00000515362.1:p.Ala2250Val
ENST00000703541.1:c.6761C>T	ENSP00000515363.1:p.Ala2254Val
ENST00000304992.11:c.6896C>T MANE Select	ENSP00000304350.6:p.Ala2299Val
ENST00000304992.10:c.6896C>T	ENSP00000304350.6:p.Ala2299Val
ENST00000571958.1:c.163-68C>T
ENST00000572621.5:c.6896C>T	ENSP00000460348.1:p.Ala2299Val
ENST00000572723.1:n.885C>T
NM_006445.3:c.6896C>T	NP_006436.3:p.Ala2299Val
XM_024450537.1:c.6896C>T	XP_024306305.1:p.Ala2299Val
NM_006445.4:c.6896C>T MANE Select	NP_006436.3:p.Ala2299Val